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Items: 1 to 20 of 117

1.

A Taiwanese boy with congenital generalized lipodystrophy caused by homozygous Ile262fs mutation in the BSCL2 gene.

Huang HH, Chen TH, Hsiao HP, Huang CT, Wang CC, Shiau YH, Chao MC.

Kaohsiung J Med Sci. 2010 Nov;26(11):615-20. doi: 10.1016/S1607-551X(10)70094-2.

2.

Congenital generalized lipodystrophy in an Indian patient with a novel mutation in BSCL2 gene.

Shirwalkar HU, Patel ZM, Magre J, Hilbert P, Van Maldergem L, Mukhopadhyay RR, Maitra A.

J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S317-22. doi: 10.1007/s10545-008-0899-5. Epub 2008 Aug 12.

PMID:
18690553
3.

Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.

Friguls B, Coroleu W, del Alcazar R, Hilbert P, Van Maldergem L, Pintos-Morell G.

Eur J Med Genet. 2009 Jan-Feb;52(1):14-6. doi: 10.1016/j.ejmg.2008.10.006. Epub 2008 Nov 12.

PMID:
19041432
4.

Two Japanese infants with congenital generalized lipodystrophy due to BSCL2 mutations.

Nishiyama A, Yagi M, Awano H, Okizuka Y, Maeda T, Yoshida S, Takeshima Y, Matsuo M.

Pediatr Int. 2009 Dec;51(6):775-9. doi: 10.1111/j.1442-200X.2009.02863.x. Epub 2009 Mar 31.

PMID:
19438831
5.

Novel mutations of the BSCL2 and AGPAT2 genes in 10 families with Berardinelli-Seip congenital generalized lipodystrophy syndrome.

Miranda DM, Wajchenberg BL, Calsolari MR, Aguiar MJ, Silva JM, Ribeiro MG, Fonseca C, Amaral D, Boson WL, Resende BA, De Marco L.

Clin Endocrinol (Oxf). 2009 Oct;71(4):512-7. doi: 10.1111/j.1365-2265.2009.03532.x. Epub 2009 Feb 18.

PMID:
19226263
6.

Founder effect of the 669insA mutation in BSCL2 gene causing Berardinelli-Seip congenital lipodystrophy in a cluster from Brazil.

Gomes KB, Pardini VC, Ferreira AC, Fonseca CG, Fernandes AP.

Ann Hum Genet. 2007 Nov;71(Pt 6):729-34. Epub 2007 May 29.

7.

Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family.

Rahman OU, Khawar N, Khan MA, Ahmed J, Khattak K, Al-Aama JY, Naeem M, Jelani M.

Diagn Pathol. 2013 May 9;8:78. doi: 10.1186/1746-1596-8-78.

8.

Exome sequencing circumvents missing clinical data and identifies a BSCL2 mutation in congenital lipodystrophy.

Schuster J, Khan TN, Tariq M, Shaiq PA, Mäbert K, Baig SM, Klar J.

BMC Med Genet. 2014 Jun 24;15:71. doi: 10.1186/1471-2350-15-71.

9.

Novel subtype of congenital generalized lipodystrophy associated with muscular weakness and cervical spine instability.

Simha V, Agarwal AK, Aronin PA, Iannaccone ST, Garg A.

Am J Med Genet A. 2008 Sep 15;146A(18):2318-26. doi: 10.1002/ajmg.a.32457.

10.

Seipin ablation in mice results in severe generalized lipodystrophy.

Cui X, Wang Y, Tang Y, Liu Y, Zhao L, Deng J, Xu G, Peng X, Ju S, Liu G, Yang H.

Hum Mol Genet. 2011 Aug 1;20(15):3022-30. doi: 10.1093/hmg/ddr205. Epub 2011 May 6.

PMID:
21551454
11.

[Congenital generalized lipodystrophy: a case report with neurological involvement].

Ben Turkia H, Tebib N, Azzouz H, Abdelmoula MS, Ben Chehida A, Hubert P, Douira W, Ben Dridi MF.

Arch Pediatr. 2009 Jan;16(1):27-31. doi: 10.1016/j.arcped.2008.10.005. Epub 2008 Nov 20. French.

PMID:
19026526
12.

Novel BSCL2 gene mutation E189X in Chinese congenital generalized lipodystrophy child with early onset diabetes mellitus.

Jin J, Cao L, Zhao Z, Shen S, Kiess W, Zhi D, Ye R, Cheng R, Chen L, Yang Y, Luo F.

Eur J Endocrinol. 2007 Dec;157(6):783-7.

14.

Impaired adipogenic capacity in induced pluripotent stem cells from lipodystrophic patients with BSCL2 mutations.

Mori E, Fujikura J, Noguchi M, Nakao K, Matsubara M, Sone M, Taura D, Kusakabe T, Ebihara K, Tanaka T, Hosoda K, Takahashi K, Asaka I, Inagaki N, Nakao K.

Metabolism. 2016 Apr;65(4):543-56. doi: 10.1016/j.metabol.2015.12.015. Epub 2016 Jan 7.

PMID:
26975546
15.

Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13.

Magré J, Delépine M, Khallouf E, Gedde-Dahl T Jr, Van Maldergem L, Sobel E, Papp J, Meier M, Mégarbané A, Bachy A, Verloes A, d'Abronzo FH, Seemanova E, Assan R, Baudic N, Bourut C, Czernichow P, Huet F, Grigorescu F, de Kerdanet M, Lacombe D, Labrune P, Lanza M, Loret H, Matsuda F, Navarro J, Nivelon-Chevalier A, Polak M, Robert JJ, Tric P, Tubiana-Rufi N, Vigouroux C, Weissenbach J, Savasta S, Maassen JA, Trygstad O, Bogalho P, Freitas P, Medina JL, Bonnicci F, Joffe BI, Loyson G, Panz VR, Raal FJ, O'Rahilly S, Stephenson T, Kahn CR, Lathrop M, Capeau J; BSCL Working Group..

Nat Genet. 2001 Aug;28(4):365-70.

PMID:
11479539
16.

Gene and phenotype analysis of congenital generalized lipodystrophy in Japanese: a novel homozygous nonsense mutation in seipin gene.

Ebihara K, Kusakabe T, Masuzaki H, Kobayashi N, Tanaka T, Chusho H, Miyanaga F, Miyazawa T, Hayashi T, Hosoda K, Ogawa Y, Nakao K.

J Clin Endocrinol Metab. 2004 May;89(5):2360-4.

PMID:
15126564
17.

Genetic basis of congenital generalized lipodystrophy.

Agarwal AK, Barnes RI, Garg A.

Int J Obes Relat Metab Disord. 2004 Feb;28(2):336-9. Review.

PMID:
14557833
18.

Phenotypic and genetic heterogeneity in congenital generalized lipodystrophy.

Agarwal AK, Simha V, Oral EA, Moran SA, Gorden P, O'Rahilly S, Zaidi Z, Gurakan F, Arslanian SA, Klar A, Ricker A, White NH, Bindl L, Herbst K, Kennel K, Patel SB, Al-Gazali L, Garg A.

J Clin Endocrinol Metab. 2003 Oct;88(10):4840-7.

PMID:
14557463
19.

Overexpression of a short human seipin/BSCL2 isoform in mouse adipose tissue results in mild lipodystrophy.

Cui X, Wang Y, Meng L, Fei W, Deng J, Xu G, Peng X, Ju S, Zhang L, Liu G, Zhao L, Yang H.

Am J Physiol Endocrinol Metab. 2012 Mar 15;302(6):E705-13. doi: 10.1152/ajpendo.00237.2011. Epub 2012 Jan 10.

20.

Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Haghighi A, Kavehmanesh Z, Haghighi A, Salehzadeh F, Santos-Simarro F, Van Maldergem L, Cimbalistiene L, Collins F, Chopra M, Al-Sinani S, Dastmalchian S, de Silva DC, Bakhti H, Garg A, Hilbert P.

Clin Genet. 2015 Jun 15. doi: 10.1111/cge.12623. [Epub ahead of print]

PMID:
26072926

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